Congestive heart failure, and Splenomegaly

Diseases related with Congestive heart failure and Splenomegaly

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Splenomegaly that can help you solving undiagnosed cases.


Top matches:

Medium match HEMOCHROMATOSIS, TYPE 2B; HFE2B


Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM MESH MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

Medium match HB BART'S HYDROPS FETALIS


Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

Medium match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

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Other less relevant matches:

Medium match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Medium match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Medium match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Splenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Anemia Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Arrhythmia Oligohydramnios Peripheral neuropathy Abnormality of the liver Diabetes mellitus Hypertension Hypogonadism Elevated hepatic transaminase Myopathy Increased serum ferritin

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Arthropathy Involuntary movements Dilated cardiomyopathy Infertility Amenorrhea Hyperpigmentation of the skin Portal hypertension Impotence Congenital hepatic fibrosis Cholestasis Lipoatrophy Respiratory insufficiency Respiratory distress Lipodystrophy Arthralgia Hepatic steatosis Hypertrophic cardiomyopathy Macrotia Hyperhidrosis Abnormality of the face Respiratory failure Fatigue Osteoporosis Babinski sign Preeclampsia Pallor Jaundice Seizures Dystonia Areflexia Cholelithiasis Gait disturbance Cerebral atrophy Abnormal pyramidal sign Dyskinesia Increased serum iron Abnormality of iron homeostasis Neuronal loss in central nervous system Hemolytic anemia Erythema nodosum Skin rash Arthrogryposis multiplex congenita Arachnodactyly Lymphadenopathy Macroglossia Clubbing of fingers Prominent nose Elevated erythrocyte sedimentation rate Episodic fever Cardiomegaly Thick lower lip vermilion Kyphosis Hyperostosis Microcytic anemia Right bundle branch block Increased antibody level in blood Subcutaneous nodule Central nervous system degeneration Joint stiffness Diaphragmatic paralysis Progressive muscle weakness Optic disc pallor Respiratory insufficiency due to muscle weakness Unsteady gait Limb muscle weakness Macrocytic anemia Respiratory tract infection Recurrent respiratory infections Abnormality of immune system physiology Hyporeflexia Intellectual disability, mild Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Recurrent infections Chronic hemolytic anemia Congenital hemolytic anemia Intention tremor Fever Decreased nerve conduction velocity Lower limb muscle weakness Clubbing of toes Tics Sensory axonal neuropathy Bowel incontinence Rhabdomyolysis Impaired vibration sensation in the lower limbs Impaired pain sensation Restlessness Insomnia Bipolar affective disorder Ventricular extrasystoles Left bundle branch block Motor axonal neuropathy Supraventricular tachycardia Acanthocytosis Orofacial dyskinesia Emotional lability Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Personality disorder Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Ventricular fibrillation Personality changes Abnormality of the Leydig cells Abnormality of the cerebral white matter Short stature Cognitive impairment Dysarthria Dysphagia Hypertonia Behavioral abnormality Depressivity Elevated serum creatine phosphokinase Dementia Dyspnea Rigidity Anxiety Mental deterioration Abnormality of movement Obsessive-compulsive behavior Confusion Paresthesia Sensory neuropathy Parkinsonism Chorea Memory impairment Generalized-onset seizure Atrial fibrillation Left ventricular hypertrophy Hallucinations Sensorimotor neuropathy Cardiac arrest Sleep apnea Ventricular arrhythmia Tremor Oligomenorrhea Hyperreflexia Hepatic fibrosis Atrial septal defect Renal insufficiency Dilatation Low-set, posteriorly rotated ears Abnormality of the kidney Scarring Stage 5 chronic kidney disease Pulmonary hypoplasia Renal cyst Dehydration Depressed nasal ridge Abnormal lung morphology Renal hypoplasia/aplasia Micrognathia Chronic kidney disease Polycystic kidney dysplasia Enlarged kidney Multiple renal cysts Chronic lung disease Atelectasis Esophageal varix Cholangitis Pancreatic cysts Hepatic cysts Tubulointerstitial fibrosis Biliary tract abnormality Ventricular septal defect Abnormality of endocrine pancreas physiology Hypersplenism Congenital hypoplastic anemia Hydrocephalus Polyhydramnios Hydrops fetalis Pericarditis Abnormal hemoglobin Leukemia Hyperbilirubinemia Prolonged neonatal jaundice Reticulocytosis Gout Anemia of inadequate production Chronic myelogenous leukemia Increased total bilirubin Elevated transferrin saturation Increased hemoglobin Increased red cell osmotic fragility Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Pain Abdominal pain Arthritis Lethargy Delayed puberty Hypogonadotrophic hypogonadism Azoospermia Generalized hyperpigmentation Abnormality of the anterior pituitary Portal fibrosis Hematemesis Motor delay Hyperlipoproteinemia Coronary artery atherosclerosis Reduced subcutaneous adipose tissue Aplasia/Hypoplasia of the skin Abnormality of the musculature Secondary amenorrhea Hyperuricemia Insulin-resistant diabetes mellitus Maternal diabetes Abnormality of the neck Prominent superficial veins Xanthomatosis Decreased HDL cholesterol concentration Calf muscle pseudohypertrophy Hyperglycemia Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Loss of facial adipose tissue Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Loss of gluteal subcutaneous adipose tissue Marked muscular hypertrophy Global developmental delay Generalized hypotonia Muscular hypotonia Spasticity Skeletal muscle hypertrophy Hyperinsulinemia Potter facies Exocrine pancreatic insufficiency Periportal fibrosis Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Alopecia Retinopathy Vertigo Ascites Limitation of joint mobility Gynecomastia Joint dislocation Hepatocellular carcinoma Chondrocalcinosis Polycystic ovaries Abnormality of the hypothalamus-pituitary axis Myalgia Hirsutism Epidermal acanthosis Hypertriglyceridemia Myocardial infarction Primary amenorrhea Thin skin Insulin resistance Generalized hirsutism Acanthosis nigricans Pancreatitis Atherosclerosis Abnormality of the astrocytes



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